Canonical Allele Identifier: CA6910867

Gene: SACS

Linked Data

• ClinVar Variation Id: 2081799
• ClinVar RCV Id: RCV002995625
• dbSNP Id: rs200735789
• ExAC: 13:23910290 T / C
• gnomAD v2: 13-23910290-T-C
• gnomAD v3: 13-23336151-T-C
• gnomAD v4: 13-23336151-T-C
• MyVariant Identifiers: chr13:g.23910290T>C (hg19) ; chr13:g.23336151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336151T>C , CM000675.2:g.23336151T>C	GRCh38
NC_000013.10:g.23910290T>C , CM000675.1:g.23910290T>C	GRCh37
NC_000013.9:g.22808290T>C	NCBI36
NG_012342.1:g.102552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17634A>G	ENSP00000508399.1:n.2185+17634A>G
ENST00000682944.1:c.7752A>G	ENSP00000507173.1:p.Ile2584Met
ENST00000683210.1:c.2185+17634A>G	ENSP00000506739.1:n.2185+17634A>G
ENST00000683270.1:c.6445+1271A>G	ENSP00000507624.1:n.6445+1271A>G
ENST00000683367.1:c.2177-6667A>G	ENSP00000507780.1:n.2177-6667A>G
ENST00000683489.1:c.2291+5434A>G	ENSP00000508403.1:n.2291+5434A>G
ENST00000683680.1:c.2318+5434A>G	ENSP00000507223.1:n.2318+5434A>G
ENST00000684163.1:c.2204-6667A>G	ENSP00000508262.1:n.2204-6667A>G
ENST00000684196.1:n.4543-6667A>G
ENST00000684325.1:c.2186-14477A>G	ENSP00000508121.1:n.2186-14477A>G
ENST00000684385.1:c.2221-6667A>G	ENSP00000507855.1:n.2221-6667A>G
ENST00000684497.1:c.2186-13507A>G	ENSP00000507057.1:n.2186-13507A>G
ENST00000382292.9:c.7725A>G MANE Select	ENSP00000371729.3:p.Ile2575Met
ENST00000423156.2:c.2186-6667A>G	ENSP00000390925.2:n.2186-6667A>G
ENST00000455470.6:c.2431+5294A>G	ENSP00000406565.2:n.2431+5294A>G
ENST00000382292.7:c.7725A>G	ENSP00000371729.3:p.Ile2575Met
ENST00000382298.7:c.7725A>G	ENSP00000371735.3:p.Ile2575Met
ENST00000402364.1:c.5475A>G	ENSP00000385844.1:p.Ile1825Met
ENST00000423156.1:c.1058-6667A>G	ENSP00000390925.1:n.1058-6667A>G
ENST00000455470.5:c.2129+5294A>G
NM_001278055.1:c.7284A>G	NP_001264984.1:p.Ile2428Met
NM_014363.5:c.7725A>G	NP_055178.3:p.Ile2575Met
XM_005266338.1:c.7752A>G	XP_005266395.1:p.Ile2584Met
XM_011535038.1:c.7776A>G	XP_011533340.1:p.Ile2592Met
XM_011535039.1:c.7743A>G	XP_011533341.1:p.Ile2581Met
XM_005266338.2:c.7752A>G	XP_005266395.1:p.Ile2584Met
XM_011535039.2:c.7743A>G	XP_011533341.1:p.Ile2581Met
XM_017020539.1:c.7716A>G	XP_016876028.1:p.Ile2572Met
XM_024449337.1:c.7752A>G	XP_024305105.1:p.Ile2584Met
NM_014363.6:c.7725A>G MANE Select	NP_055178.3:p.Ile2575Met
NM_001278055.2:c.7284A>G	NP_001264984.1:p.Ile2428Met